ADNP Syndrome: The Seaver Autism Center for Research and Treatment is Characterizing ADNP-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
Recruiting
Observational Study
ADNP
Helsmoortel-Van Der Aa Syndrome
Autism Spectrum Disorder
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 2 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 30 (estimated)
- Sponsor
- Icahn School of Medicine at Mount Sinai · Other
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
ADNP, also known as Activity Dependent Neuroprotective Protein, is a rare neurodevelopmental disorder caused by mutations encompassing the ADNP gene on chromosome 20. Clinically, ADNP syndrome is characterized by intellectual disability and global developmental delay. This study seeks to characterize ADNP-related neurodevelopmental disorders using a number of genetic, medical and neuropsychologica…
Trial Locations
Loading…
Loading trial locations…
Eligibility Criteria
Inclusion Criteria:
* Eligible participants must have a documented variant affecting the ADNP gene that the research team determines to be likely or definitely pathogenic.
* Eligible participants must be at least 2 years of age.
Exclusion Criteria:
* none
Contacts